N4S (p.Asn4Ser) variant of DSP (Desmoplakin)
N4S (p.Asn4Ser) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N4S (p.Asn4Ser) variant details
- p.Asn4Ser
- ExAC rs776818826
- gnomAD rs776818826
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.18
- MetaLR 0.10
- MetaSVM -0.97
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available